3rd Course in Thalassemia - ESHG



| | | E.C.A. |

| | |European Cytogeneticists |

|[pic] | |Association |

Clinical Cytogenetics

Aug. 31st to Sep. 8th, 2019

Goldrain, South Tyrol, Italy

DIRECTOR:

A. Schinzel (Zurich, Switzerland)

FACULTY:

D. Bartholdi (Bern, Switzerland), A. Baumer (Zürich, Switzerland), P. Benn (Farmington CT, U.S.A.), R. Ciccone (Pavia, Italy), Jean-Michel Dupont (Paris, France), E. Klopocki (Würzburg, Germany), T. Krones (Zurich, Switzerland), N.E. Kurtas (Florence, Italy), K. Madan (Leiden, the Netherlands), K. Miller (Hannover, Germany), Rolph Pfundt (Nijmegen, The Netherlands), E. Syk-Lundberg (Stockholm, Sweden), G. van Buggenhout (Leuven, Belgium), J. Wisser (Zurich, Switzerland), O. Zuffardi (Pavia, Italy)

PROVISIONAL PROGRAM:

|Saturday, August 31th Arrival at Goldrain |

|19:00-20:30 | |Dinner | |

|20:30-21:00 | |A. Schinzel |Comments on purpose and content of the course |

|21:00- | |Get together |Steinkeller |

|Sunday, September 1st Basic and clinical cytogenetics |

|Morning Session: 09:00 – 12:40 |

|09:00–09:35 | |A. Schinzel |Introduction and organizational comments |

|09:40-10:15 |1 |K. Miller |Basic concepts of chromosome aberrations and epidemiology |

|10:20-10:55 |2 |D. Bartholdi |Genetic counseling for chromosome aberrations |

|11:00-11:20 | |Coffee Break | |

|11:25-12:00 |3 |T. Krones |Ethical issues |

|12:05-12:40 |4 |D. Bartholdi |Clinical dysmorphologic examination in cytogenetic disorders |

|12:45-14:00 | |Lunch Break | |

|Afternoon Session: 14:00 – 18:30 Clinical cytogenetics |

|14:00-14:35 |5 |A. Schinzel |Dysmorphic findings in chromosome aberrations: formation and interpretation |

|14:40-15:15 |6 |E. Syk-Lundberg |Small supernumerary chromosomes |

|15:20-15:55 |7 |K. Miller |Accreditation of cytogenetic laboratories |

|16:00-16:20 | |Coffee Break | |

| | | | |

|16:25-17:10 |W1W2 |D. Bartholdi |Clinical issues: difficult situations |

| | |T. Krones |Ethical issues: difficult situations |

|17:15-17:45 | 8 |K. Miller |Cytogenetics of spontaneous abortions and stillbirths |

|17:50-18:35 |W1W2 |D. Bartholdi |Clinical issues: difficult situations |

| | |T. Krones |Ethical issues: difficult situations |

|19:00-20:00 | |Dinner | |

|21:00- | |Get together |Steinkeller |

|Monday, September 2nd Molecular cytogenetic techniques et al. |

|Morning Session: 09:00 – 12:40 |

|09:00–09:35 |9 |K. Miller, E. Klopocki |ISCN, standard and molecular |

|09:40-10:15 |10 |O. Zuffardi |Incomplete penetrance and genomic rearrangements |

|10:20-10:55 |11 |J.M. Dupont |FISH techniques and their application |

|11:00-11:20 | |Coffee Break | |

|11:25-12:00 |12 |O. Zuffardi |Balanced and unbalanced genomic rearrangements: mechanisms of origin |

|12:05-12:40 |13 |R. Ciccone |Array: principles, technical aspects, different platforms |

|12:45-14:00 | |Lunch Break | |

|Afternoon Session: 14:00 – 18:40 Continuation and practical exercises |

|14:00-14:35 |14 |O. Zuffardi |The legacy of trisomy rescue: from imprinting diseases to de novo unbalanced chromosome |

| | | |rearrangements |

|14:40-15:15 |15 |R. Pfundt |SNP array analysis and interpretation in constitutional genome diagnostics |

|15:15-15:50 |16 |P. Benn |Origin of trisomy |

|15.55-16.30 |17 |N.E.Kurtas |Congenital chromothripsis rearrangements |

|16:35-16:50 | |Coffee Break | |

|16:50-17:25 |W3 |K. Miller |Practical exercises in report writing. Parallel with W4 |

| |W4 |R. Ciccone/ |Databases for the interpretation of array results for beginners: hands-on in computer room. |

| | |E. Klopocki |Parallel with W3 |

|17:30-18:05 |18 |O. Zuffardi |Genomic mosaicism and diseases |

|18:10-18:45 |W3 |K. Miller |Practical exercises in report writing. Parallel with W4 |

| |W4 |R. Ciccone/ |Databases for the interpretation of array results for beginners: hands-on in computer room. |

| | |E. Klopocki |Parallel with W3 |

|19:00-20:00 | |Dinner | |

|21:00- | |Get together |Steinkeller |

|Tuesday, September 3rd Prenatal diagnosis |

|Morning Session: 09:00 – 12:40 |

|09:00–09:35 |19 |P. Benn |Traditional approaches for the detection of aneuploidy in prenatal diagnosis: screening |

| | | |using serum and ultrasound markers |

|09:40-10:15 |20 |J.M.Dupont |Prenatal cytogenetic diagnosis I: mosaics in PND |

|10:20-10:55 |21 |J.M.Dupont |Prenatal cytogenetic diagnosis II: RAD (rapid aneuploidy detection) and CMA (chromosomal |

| | | |microarray detection) |

|11:00-11:20 | |Coffee Break | |

|11:25-12:00 |22 |P. Benn |Non-invasive prenatal aneuploidy testing using cfDNA: current status and future prospects I |

|12:05-12:40 |23 |P. Benn |Non-invasive prenatal aneuploidy testing using cfDNA: current status and future prospects II|

|12:45-14:00 | |Lunch Break | |

|Afternoon Session: 14:10 – 18:30 EXCURSION |

|19:00-20:00 | |Dinner | |

|21:00- | |Get together |Steinkeller |

|Wednesday, September 4th Prenatal Diagnosis, miscellaneous |

|Morning Session: 09:00 – 12:40 |

|09:00–09:45 |24 |E. Syk-Lundberg |Pre-implantation genetic diagnosis |

|09:50-10:25 |25 |J. Wisser |Prenatal ultrasound findings indicative for chromosome aberrations |

|10:30-11:05 |26 |A.Baumer |MLPA and QF-PCR |

|11:10-11:30 | |Coffee Break | |

|11:30-12:05 |27 |K. Madan |Cytogenetic polymorphisms |

|12:10-12:45 |28 |J.Wisser/A. Schinzel |Twins at prenatal diagnosis |

|12:45-14:00 | |Lunch Break | |

|Afternoon Session: 14:00 – 18:30 Practical exercises; miscellaneous |

|14:00-14:35 |29 |K. Madan |Complex chromosome rearrangements |

|14:40-15:15 |30 |A.Baumer |Uniparental disomy (UPD) and imprinting |

|15:20-15:55 |31 |K. Madan |Inversions and insertions |

|15:55-16:15 | |Coffee Break | |

|16:15-17:00 |W5 |A. Baumer |Work-up of cases: strategies after the detection of CNVs. Parallel with W6 |

| |W6 |R. Ciccone/ |Databases for the interpretation of array results for advances users: hands-on in computer |

| | |E. Klopocki |room. Parallel with W5 |

|17:05-17:40 |32 |K. Madan |Mosaics and chimeras |

|17:45-18:30 |W6 |R. Ciccone/ |Databases for the interpretation of array results for advances users: hands-on in computer |

| | |E. Klopocki |room. Parallel with W5 |

| |W5 |A. Baumer |Work-up of cases: strategies after the detection of CNVs. Parallel with W6 |

|19:00-20:00 | |Dinner | |

| 21:00- | |Get together |Steinkeller |

|Thursday, September 5th Clinical cytogenetics |

|Morning Session: 09:00 – 12:40 |

|09:00–09:35 |33 |A. Schinzel |Clinical phenotypes in UPD |

|09:40-10:15 |34 |G. v. Buggenhout |Microdeletion syndromes |

|10:20-10:55 |35 |E. Klopocki |Position effects and effects of CNVs containing no genes |

|11:00-11:20 | |Coffee Break | |

| | | | |

| | | | |

|11:25-12:00 |36 |G. v. Buggenhout |Common chromosome disorders and follow-up I |

|12:05-12:40 |37 |G. v. Buggenhout |Common chromosome disorders and follow-up II |

|12:45-14:10 | |Lunch Break | |

|Afternoon Session: 14:15 – 18:40 Sex chromosome aberration; miscellaneous |

|14:10-14:45 |38 |G.v.Buggenhout |The clinical effect of sex chromosomal aneuploidy |

|14:50-15:25 |39 |O. Zuffardi |Sex chromosomes: mosaics, AZF deletions, XIST, SRY |

|15:30-16:05 |40 |K. Madan |Disorders of sex development |

|16:05-16:25 | |Coffee Break | |

|16:25-17:10 |W7 |K. Miller |Segregation of chromosomal translocations: practical exercises (parallel with W8) |

| | | |Appropriate management in prenatal screening and diagnosis (parallel with W7) |

| |W8 |P. Benn | |

|17:10-17:55 |W7 |K. Miller |Segregation of chromosomal translocations: practical exercises (half of the group, rotate |

| | | |with W8) |

| | | |Appropriate management in prenatal screening and diagnosis (parallel with W7) |

| |W8 |P. Benn | |

|18:00-18:40 |41 |O. Zuffardi |Why are certain rearrangements more frequent than others? |

|19:00-20:00 | |Dinner | |

|21:00- | |Get together |Steinkeller |

|Friday, September 6th Miscellaneous |

|Morning Session: 09:00 – 12:40 New techniques |

|09:00-09:50 |42 |R. Pfundt |Next generations sequencing strategies in diagnostics to detect nucleotide and structural |

| | | |variants in the human genome |

|09:55-10:50 |43 |E. Klopocki |An introduction to CRISPR/Cas9 and its future possibilities |

|10:55-11:15 | |Coffee Break | |

|11:15-12:40 |44 |Students |Student presentations |

|12:45-14:10 | |Lunch Break | |

|Afternoon Session: 14:15 – 18:45 Second excursion or self-study |

|19:00-20:00 | |Dinner | |

| 20:15- | |Get together |Steinkeller |

|Saturday, September 7th Past and future of clinical cytogenetics |

|Morning Session: 09:00 – 12:40 |

|09:00–09:40 |45 |O. Zuffardi |From cytogenetics to cytogenomics |

|09:45-10:20 |W9 |Students |Student presentations (par. with W10) |

| |W10 |N.E.Kurtas |Breakpoint analysis of complex structural variants (parallel with W9) |

|10:25-11:00 |46 |O.Zuffardi |Future of human cytogenetic diagnosis |

|11:05-11:20 | |Coffee Break | |

|11:20-11:55 |W10 |Students |Student presentations (parallel with W9) |

| |W9 |N.E.Kurtas |Breakpoint analysis of complex structural variants (parallel with W10) |

|12:00-12:35 |47 |A. Schinzel |Paradigm shifts, unexpected findings and use of markers in cytogenetics |

|12:40-14:00 | |Lunch Break | |

|Afternoon Session: 14:00 – 18:45 Evaluation; examination; castle tour |

|14:00-16:30 |48 |Students / Faculty |Student presentations and discussion of the program |

|16:30-16:50 | |Coffee Break | |

|16:50-18:00 | |Students |EXAMINATION |

|18:00-18:45 | |Students / Faculty |Guided visit of the castle |

|19:30-21:00 | |Farewell dinner |Steinkeller or inner court of the castle |

|Sunday, September 8th Goodbye Goldrain |

|08:00-09:00 | |Breakfast | |

|09:00- | |Checkout and departure | |

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